Incidental Mutation 'R9429:Sry'
ID |
712850 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sry
|
Ensembl Gene |
ENSMUSG00000069036 |
Gene Name |
sex determining region of Chr Y |
Synonyms |
Tdy, Tdf |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.318)
|
Stock # |
R9429 (G1)
|
Quality Score |
156.458 |
Status
|
Not validated
|
Chromosome |
Y |
Chromosomal Location |
2662471-2663658 bp(-) (GRCm39) |
Type of Mutation |
small deletion (10 aa in frame mutation) |
DNA Base Change (assembly) |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG to GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG
at 2662638 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000088717
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091178]
|
AlphaFold |
Q05738 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000091178
|
SMART Domains |
Protein: ENSMUSP00000088717 Gene: ENSMUSG00000069036
Domain | Start | End | E-Value | Type |
HMG
|
4 |
74 |
2.76e-24 |
SMART |
low complexity region
|
144 |
366 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Variations in expression of alleles on specific backgrounds result in partial and/or complete male to female sex reversal. Deletion of alleles results in XY females. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5930422O12Rik |
A |
T |
8: 33,919,165 (GRCm39) |
|
probably benign |
Het |
Acte1 |
G |
T |
7: 143,434,902 (GRCm39) |
|
probably null |
Het |
Adam7 |
G |
C |
14: 68,771,080 (GRCm39) |
H15Q |
probably null |
Het |
Adgrv1 |
A |
T |
13: 81,567,468 (GRCm39) |
I5235N |
probably damaging |
Het |
Adgrv1 |
A |
C |
13: 81,741,165 (GRCm39) |
C100G |
probably damaging |
Het |
Aebp1 |
A |
G |
11: 5,821,649 (GRCm39) |
T1063A |
probably benign |
Het |
Atmin |
A |
G |
8: 117,670,307 (GRCm39) |
R48G |
probably benign |
Het |
Atxn10 |
A |
G |
15: 85,346,565 (GRCm39) |
E441G |
probably benign |
Het |
Catsper1 |
T |
C |
19: 5,389,755 (GRCm39) |
V505A |
possibly damaging |
Het |
Chd5 |
T |
C |
4: 152,447,364 (GRCm39) |
V471A |
probably damaging |
Het |
Cma2 |
A |
G |
14: 56,210,276 (GRCm39) |
I110V |
possibly damaging |
Het |
Cnst |
A |
C |
1: 179,432,566 (GRCm39) |
N243T |
probably damaging |
Het |
Col15a1 |
A |
T |
4: 47,310,439 (GRCm39) |
N1203I |
probably damaging |
Het |
Col6a3 |
T |
A |
1: 90,731,585 (GRCm39) |
H1556L |
probably benign |
Het |
Crybg3 |
T |
A |
16: 59,375,556 (GRCm39) |
K185N |
probably benign |
Het |
Dnah1 |
G |
A |
14: 30,997,499 (GRCm39) |
Q2620* |
probably null |
Het |
Dusp10 |
A |
C |
1: 183,801,091 (GRCm39) |
D286A |
probably benign |
Het |
Erich6 |
A |
G |
3: 58,536,935 (GRCm39) |
V252A |
possibly damaging |
Het |
Fhod1 |
A |
G |
8: 106,057,139 (GRCm39) |
L945P |
probably damaging |
Het |
Foxh1 |
C |
T |
15: 76,553,442 (GRCm39) |
R120Q |
probably null |
Het |
Frmd4b |
T |
C |
6: 97,279,252 (GRCm39) |
D591G |
probably damaging |
Het |
Gbe1 |
G |
A |
16: 70,292,203 (GRCm39) |
V512I |
probably benign |
Het |
Ghitm |
A |
G |
14: 36,852,655 (GRCm39) |
S142P |
probably damaging |
Het |
Gldc |
C |
T |
19: 30,091,172 (GRCm39) |
A808T |
possibly damaging |
Het |
Gm14496 |
C |
T |
2: 181,637,934 (GRCm39) |
T336I |
possibly damaging |
Het |
Ido2 |
T |
C |
8: 25,037,194 (GRCm39) |
T171A |
probably damaging |
Het |
Kctd19 |
A |
T |
8: 106,109,652 (GRCm39) |
I930N |
probably damaging |
Het |
Kctd2 |
T |
C |
11: 115,318,277 (GRCm39) |
Y187H |
probably damaging |
Het |
L3hypdh |
T |
C |
12: 72,124,203 (GRCm39) |
T246A |
probably damaging |
Het |
Lama1 |
A |
G |
17: 68,118,449 (GRCm39) |
M2554V |
|
Het |
Laptm5 |
A |
G |
4: 130,655,961 (GRCm39) |
Y93C |
|
Het |
Mroh2b |
T |
A |
15: 4,963,907 (GRCm39) |
L833Q |
probably damaging |
Het |
Ms4a12 |
T |
C |
19: 11,193,424 (GRCm39) |
D187G |
probably damaging |
Het |
Muc4 |
C |
T |
16: 32,576,098 (GRCm39) |
T1866I |
unknown |
Het |
Myo1a |
G |
T |
10: 127,543,247 (GRCm39) |
D168Y |
probably damaging |
Het |
Nek1 |
C |
T |
8: 61,559,892 (GRCm39) |
S1005L |
probably benign |
Het |
Nrg1 |
T |
A |
8: 32,308,592 (GRCm39) |
M523L |
probably benign |
Het |
Nt5c2 |
T |
A |
19: 46,877,459 (GRCm39) |
H494L |
probably benign |
Het |
Oasl2 |
G |
A |
5: 115,043,040 (GRCm39) |
V271I |
probably benign |
Het |
Or13a1 |
T |
G |
6: 116,471,292 (GRCm39) |
S241A |
probably damaging |
Het |
Or52s1 |
C |
T |
7: 102,861,871 (GRCm39) |
A268V |
possibly damaging |
Het |
Or5e1 |
G |
T |
7: 108,354,412 (GRCm39) |
M116I |
probably damaging |
Het |
Per2 |
T |
C |
1: 91,351,489 (GRCm39) |
T1006A |
probably benign |
Het |
Phyhd1 |
C |
A |
2: 30,156,917 (GRCm39) |
F19L |
probably benign |
Het |
Pter |
T |
A |
2: 12,985,112 (GRCm39) |
D147E |
probably benign |
Het |
Rps6ka1 |
A |
C |
4: 133,598,900 (GRCm39) |
L90V |
probably damaging |
Het |
Rrp15 |
A |
T |
1: 186,481,368 (GRCm39) |
D46E |
probably benign |
Het |
Ryr2 |
A |
G |
13: 11,809,459 (GRCm39) |
F789L |
probably damaging |
Het |
Sepsecs |
T |
C |
5: 52,801,294 (GRCm39) |
K456R |
probably benign |
Het |
Septin11 |
G |
A |
5: 93,321,397 (GRCm39) |
|
probably null |
Het |
Sowahb |
T |
C |
5: 93,191,080 (GRCm39) |
I546M |
possibly damaging |
Het |
Spata31 |
C |
A |
13: 65,070,336 (GRCm39) |
T828K |
probably benign |
Het |
Ston1 |
A |
G |
17: 88,943,034 (GRCm39) |
T147A |
probably benign |
Het |
Tcf3 |
G |
A |
10: 80,252,436 (GRCm39) |
P350S |
probably benign |
Het |
Tek |
A |
G |
4: 94,715,515 (GRCm39) |
D402G |
probably benign |
Het |
Themis3 |
T |
C |
17: 66,866,665 (GRCm39) |
R192G |
probably damaging |
Het |
Tmc1 |
T |
A |
19: 20,793,548 (GRCm39) |
I538F |
possibly damaging |
Het |
Trpc3 |
T |
G |
3: 36,705,777 (GRCm39) |
I473L |
probably benign |
Het |
Ttll2 |
A |
T |
17: 7,620,085 (GRCm39) |
L4Q |
probably damaging |
Het |
Urb2 |
T |
A |
8: 124,750,226 (GRCm39) |
Y5* |
probably null |
Het |
Vav3 |
T |
A |
3: 109,564,561 (GRCm39) |
Y673* |
probably null |
Het |
Vmn1r32 |
T |
A |
6: 66,530,237 (GRCm39) |
T180S |
probably benign |
Het |
Vmn1r90 |
A |
T |
7: 14,295,647 (GRCm39) |
N150K |
probably damaging |
Het |
Zbed6 |
A |
C |
1: 133,585,453 (GRCm39) |
I628R |
probably damaging |
Het |
Zfp1007 |
A |
T |
5: 109,824,334 (GRCm39) |
L372* |
probably null |
Het |
Zfp750 |
G |
A |
11: 121,404,693 (GRCm39) |
R61C |
probably damaging |
Het |
Zfp87 |
A |
G |
13: 74,520,703 (GRCm39) |
I125T |
probably damaging |
Het |
Zfta |
T |
C |
19: 7,399,594 (GRCm39) |
L447P |
probably damaging |
Het |
|
Other mutations in Sry |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
FR4304:Sry
|
UTSW |
Y |
2,662,837 (GRCm39) |
small insertion |
probably benign |
|
FR4340:Sry
|
UTSW |
Y |
2,662,824 (GRCm39) |
small insertion |
probably benign |
|
FR4342:Sry
|
UTSW |
Y |
2,663,146 (GRCm39) |
small deletion |
probably benign |
|
FR4342:Sry
|
UTSW |
Y |
2,662,835 (GRCm39) |
small insertion |
probably benign |
|
FR4342:Sry
|
UTSW |
Y |
2,662,836 (GRCm39) |
small insertion |
probably benign |
|
FR4342:Sry
|
UTSW |
Y |
2,662,839 (GRCm39) |
small insertion |
probably benign |
|
FR4449:Sry
|
UTSW |
Y |
2,662,832 (GRCm39) |
small insertion |
probably benign |
|
FR4449:Sry
|
UTSW |
Y |
2,662,818 (GRCm39) |
small insertion |
probably benign |
|
FR4589:Sry
|
UTSW |
Y |
2,662,818 (GRCm39) |
small insertion |
probably benign |
|
FR4737:Sry
|
UTSW |
Y |
2,663,195 (GRCm39) |
small deletion |
probably benign |
|
FR4737:Sry
|
UTSW |
Y |
2,662,837 (GRCm39) |
small insertion |
probably benign |
|
FR4737:Sry
|
UTSW |
Y |
2,662,838 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Sry
|
UTSW |
Y |
2,662,841 (GRCm39) |
small insertion |
probably benign |
|
R0288:Sry
|
UTSW |
Y |
2,662,818 (GRCm39) |
missense |
unknown |
|
R0506:Sry
|
UTSW |
Y |
2,662,864 (GRCm39) |
missense |
unknown |
|
R0690:Sry
|
UTSW |
Y |
2,662,944 (GRCm39) |
small deletion |
probably benign |
|
R0784:Sry
|
UTSW |
Y |
2,662,731 (GRCm39) |
missense |
unknown |
|
R1373:Sry
|
UTSW |
Y |
2,662,864 (GRCm39) |
missense |
unknown |
|
R1555:Sry
|
UTSW |
Y |
2,662,975 (GRCm39) |
missense |
unknown |
|
R1638:Sry
|
UTSW |
Y |
2,663,149 (GRCm39) |
missense |
unknown |
|
R2110:Sry
|
UTSW |
Y |
2,662,901 (GRCm39) |
missense |
unknown |
|
R2212:Sry
|
UTSW |
Y |
2,663,339 (GRCm39) |
missense |
probably damaging |
0.99 |
R3150:Sry
|
UTSW |
Y |
2,662,944 (GRCm39) |
small deletion |
probably benign |
|
R3552:Sry
|
UTSW |
Y |
2,663,141 (GRCm39) |
missense |
unknown |
|
R4877:Sry
|
UTSW |
Y |
2,662,864 (GRCm39) |
missense |
unknown |
|
R4888:Sry
|
UTSW |
Y |
2,663,105 (GRCm39) |
missense |
unknown |
|
R5028:Sry
|
UTSW |
Y |
2,663,312 (GRCm39) |
missense |
probably damaging |
0.97 |
R5266:Sry
|
UTSW |
Y |
2,662,975 (GRCm39) |
missense |
unknown |
|
R5305:Sry
|
UTSW |
Y |
2,662,982 (GRCm39) |
missense |
unknown |
|
R5335:Sry
|
UTSW |
Y |
2,663,647 (GRCm39) |
missense |
probably benign |
0.08 |
R5587:Sry
|
UTSW |
Y |
2,662,625 (GRCm39) |
missense |
unknown |
|
R5915:Sry
|
UTSW |
Y |
2,662,612 (GRCm39) |
missense |
unknown |
|
R6183:Sry
|
UTSW |
Y |
2,662,975 (GRCm39) |
missense |
unknown |
|
R6184:Sry
|
UTSW |
Y |
2,662,975 (GRCm39) |
missense |
unknown |
|
R6187:Sry
|
UTSW |
Y |
2,662,975 (GRCm39) |
missense |
unknown |
|
R6976:Sry
|
UTSW |
Y |
2,662,938 (GRCm39) |
missense |
unknown |
|
R7358:Sry
|
UTSW |
Y |
2,662,638 (GRCm39) |
small deletion |
probably benign |
|
R7632:Sry
|
UTSW |
Y |
2,662,638 (GRCm39) |
small deletion |
probably benign |
|
R7678:Sry
|
UTSW |
Y |
2,663,248 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7737:Sry
|
UTSW |
Y |
2,662,638 (GRCm39) |
small deletion |
probably benign |
|
R7812:Sry
|
UTSW |
Y |
2,662,638 (GRCm39) |
small deletion |
probably benign |
|
R7829:Sry
|
UTSW |
Y |
2,662,638 (GRCm39) |
small deletion |
probably benign |
|
R8005:Sry
|
UTSW |
Y |
2,663,303 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8028:Sry
|
UTSW |
Y |
2,662,638 (GRCm39) |
small deletion |
probably benign |
|
R8082:Sry
|
UTSW |
Y |
2,662,589 (GRCm39) |
missense |
unknown |
|
R8212:Sry
|
UTSW |
Y |
2,662,638 (GRCm39) |
small deletion |
probably benign |
|
R8223:Sry
|
UTSW |
Y |
2,663,204 (GRCm39) |
missense |
unknown |
|
R8252:Sry
|
UTSW |
Y |
2,663,298 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8390:Sry
|
UTSW |
Y |
2,662,638 (GRCm39) |
small deletion |
probably benign |
|
R9027:Sry
|
UTSW |
Y |
2,662,638 (GRCm39) |
small deletion |
probably benign |
|
RF002:Sry
|
UTSW |
Y |
2,662,564 (GRCm39) |
small deletion |
probably benign |
|
RF006:Sry
|
UTSW |
Y |
2,662,638 (GRCm39) |
small deletion |
probably benign |
|
RF008:Sry
|
UTSW |
Y |
2,662,826 (GRCm39) |
small insertion |
probably benign |
|
RF040:Sry
|
UTSW |
Y |
2,662,590 (GRCm39) |
small insertion |
probably benign |
|
RF063:Sry
|
UTSW |
Y |
2,662,595 (GRCm39) |
frame shift |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTCATGAGACTGCCAACCAC -3'
(R):5'- GCCTGTTGATATCCCCACTG -3'
Sequencing Primer
(F):5'- ACAGGGCTGTGCTGAGG -3'
(R):5'- GCAGCAGCATCAGTTCCATG -3'
|
Posted On |
2022-05-16 |